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Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies

PURPOSE: TUBA1A and TUBB2B tubulinopathies are rare neurodevelopmental disorders characterized by cortical and extracortical malformations and heterogenic phenotypes. There is a need for quantitative clinical endpoints that will be beneficial for future diagnostic and therapeutic trials. METHODS: Qu...

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Detalles Bibliográficos
Autores principales:	Schröter, Julian, Döring, Jan H., Garbade, Sven F., Hoffmann, Georg F., Kölker, Stefan, Ries, Markus, Syrbe, Steffen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group US 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7935713/ https://www.ncbi.nlm.nih.gov/pubmed/33082561 http://dx.doi.org/10.1038/s41436-020-01001-z

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